ClinVar Miner

List of variants reported as uncertain significance for respiratory failure by Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital

Included ClinVar conditions (7):

Atrial septal defect; Hydronephrosis; Pulmonary hypoplasia; Respiratory failure; Abdominal distention; Gastrointestinal obstruction; Respiratory failure requiring assisted ventilation; Intestinal obstruction; Abnormal pulmonary interstitial morphology; Primary microcephaly; Ventricular septal defect
Bronchopulmonary dysplasia of newborn; Feeding difficulties; Anemia; Eczematoid dermatitis; Phimosis; Gastroesophageal reflux; Respiratory failure; Penoscrotal transposition
Clubfoot; Skeletal dysplasia; Micrognathia; Hemivertebrae; Preaxial foot polydactyly; Respiratory failure; Short femur; Vertebral segmentation defect; Pseudoarthrosis; Chronic lung disease; Abnormal pulmonary interstitial morphology; Coat hanger sign of ribs; Vertebral hypoplasia; Absent epiphyses; Cleft palate; Patent ductus arteriosus
Dysphagia; Bilateral ptosis; Gastroesophageal reflux; Respiratory failure
Neonatal respiratory distress
Newborn respiratory distress syndrome
Respiratory failure

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 2

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_002204.4(ITGA3):c.1766G>C (p.Arg589Pro)	rs377230398	0.00006
NM_001089.3(ABCA3):c.1336G>A (p.Asp446Asn)	rs200803298	0.00005

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.